Sordità neurosensoriale bilaterale da nuova mutazione del gene GBJ2 (D179H): recessiva o dominante? Preverbale o postlinguale?

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[automatically translated] RATIONAL The genetic deafness in the Mediterranean presents prevalence values much higher than other 'endemic' areas and in 80% of cases the gene is GJB2. The knowledge of the correct genetic transmission (autosomal recessive, dominant, variable or co-segregation with the gene GJB6 transmission) is also of vital importance to determine the percentage of deafness risk for the future progeny. The authors then describe a gene mutation of the connexin 26, partially new, where the family genetic study is nullifying a recessive transmission. MATERIALS AND METHODS In the presence of a patient with congenital bilateral sensorineural hearing loss where the study of connexin 26 has highlighted the deterioration in double heterozygous for 35delG / D179H throughout the proband's family has been studied from a genetic point of view and audiology. RESULTS Both parents, were found to have normal hearing alteration of the connexin 26 gene in the heterozygous state: D179H the mother, the father 35delG. The study of the maternal line was observed that maternal grandfather was also a bearer for the new mutation. The probands finally, is the genetic analysis was performed of GJB6 gene, which was negative, in order to exclude a co-segregation. CONCLUSIONS The pedigree of probands shows that with absolute certainty you are faced with a typically recessive deafness. Compared with the D179N mutation identified a few years ago in heterozygous form, in three deaf individuals postverbal belonging to a single family in the Mediterranean area, and therefore considered autosomal dominant, this being currently discovery recessive transmission we can conclude that the D179N alone it can not be the cause of sensorineural hearing loss.
Original languageItalian
Number of pages0
Publication statusPublished - 2013

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